Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Gene editing has moved from theory to bedside with a speed that would have seemed impossible a decade ago. A new wave of ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

Researchers from the Psychiatric Genomics Consortium (PGC) report that most genetic influences on mental illness are shared across diagnostic categories, revealing a more interconnected biological ...

Genetic results from the Deciphering Developmental Disorders (DDD) study have enabled thousands of children with severe developmental disorders to receive better treatment. Thousands of children with ...

For decades, geneticists have known that most common illnesses are not caused by a single rogue gene but by intricate ...

A new study from Aarhus University reveals fewer cases of ectodermal dysplasia in Denmark than previously believed. This first mapping of the diseases holds crucial importance for diagnosis, treatment ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

The era of genetic medicines has ushered in novel and exciting ways of treating genetic diseases, one of which includes bringing to reality the promise of a one-time treatment by addressing the root ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...